metatropic dysplasia (DOID:0111514)
Alliance: disease page
Synonyms: metatropic dwarfism
Alt IDs: OMIM:156530, MESH:C537356, NCI:C175209, ORDO:2635, UMLS_CUI:C0265281
Definition: A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.